Canonical Allele Identifier: CA2466438194
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694133G= , CM000685.2:g.153694133G= GRCh38
NC_000023.10:g.152959588G= , CM000685.1:g.152959588G= GRCh37
NC_000023.9:g.152612782G= NCBI36
NG_012016.1:g.10837G=
NG_012016.2:g.10837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1258G= MANE Select ENSP00000253122.5:p.Val420=
ENST00000253122.9:c.1258G= ENSP00000253122.5:p.Val420=
ENST00000413787.1:c.258-71G= ENSP00000400463.1:n.258-71G=
ENST00000430077.6:c.913G= ENSP00000403041.2:p.Val305=
ENST00000442457.1:c.312G=
ENST00000457723.1:c.239-4G= ENSP00000394742.1:n.239-4G=
ENST00000485324.1:n.1403G=
NM_001142805.1:c.1228G= NP_001136277.1:p.Val410=
NM_001142806.1:c.913G= NP_001136278.1:p.Val305=
NM_005629.3:c.1258G= NP_005620.1:p.Val420=
NM_005629.4:c.1258G= MANE Select NP_005620.1:p.Val420=
NM_001142805.2:c.1228G= NP_001136277.1:p.Val410=